G33D (p.Gly33Asp) variant of PRRT2 (Q7Z6L0)
G33D (p.Gly33Asp) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
G33D (p.Gly33Asp) variant details
- p.Gly33Asp
- rs1900061718
- ClinGen CA395477274
- ClinVar RCV001878465
- TOPMed rs1900061718
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.12
- MetaLR 0.16
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.34
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available